Glanzmann Thrombasthenia

Glanzmann Thrombasthenia (GT) is a rare genetic disorder that affects the function of platelets. While the number of platelets remains normal, their capacity to create solid blood clots has been diminished, resulting in abnormal bleeding. The condition is evident from birth and may range in severity from minor to life-threatening, according to the person.

What Is Glanzmann Thrombasthenia?

GT is hereditary disorder that is caused by mutations in particular proteins (integrins) located on the platelet’s surfacemostly those of the GPIIb/IIIa system which is also known as AIIbb3. This complex is vital for platelet aggregation, which is a process that is essential to the formation of blood clots. If it’s deficient or ineffective the platelets are unable to join together even if they exist in a healthy amount.

This can cause an increased risk of bleeding that could cause damage to the mucous membranes, skin and gastrointestinal tract or the internal organs too.

Common Signs and Symptoms

The symptoms typically manifest very early in life. They can vary in severity however, the most frequent manifestations are:

• Frequent or prolonged nosebleeds

• Gums bleeding particularly when you brush or perform dental procedures.

• Simple bruising with minor bruises

• Menstrual bleeding that is heavy in females

• Long-term bleeding after trauma or surgeries.

• Sometimes, internal bleeding can occur such as hemorrhage in the gastrointestinal tract or urine that is bloody

It’s important to keep in mind that not everyone experiences the same degree of symptoms.

Causes and Genetic Basis

GT is passed down through the autosomal-recessive method. This means that one must be born with one gene that is abnormal from each parent in order to be affected. Parents of a child affected tend to be carriers, and don’t show symptoms on their own.

Variations in one of ITGA2B or ITGB3 genes affect manufacturing of GPIIb/IIIa which reduces the capacity of platelets to stick during clot formation.

GT is more common in areas in which the consanguineous (within-family) weddings are more common.

How Is GT Diagnosed?

Diagnosis is the result of a mix of laboratory and clinical tests. This could include:

• Time to bleed and tests for platelet function often abnormal or prolonged

• Platelet aggregate studies are characterized by a decreased or no response to stimuli such as ADP or collagen

• Flow Cytometry to assess whether there’s a manifestation or lack GPIIb/IIIa’s receptor

• Testing for genetics confirms the presence of changes in ITGA2B or ITGB3 and assists in counseling for families

Treatment Options for Glanzmann Thrombasthenia

There is no treatment for GT in the majority of cases, however treatment focuses on controlling bleeding episodes as well as to avoid complications.

1. Platelet Transfusions

It is used during bleeding episodes that are severe or prior to surgery. But, frequent transfusions may cause the formation of antibodies which makes subsequent transfusions less effective.

2. Recombinant Factor VIIa (rFVIIa)

The use of medicines such as NovoSeven(r) or RT may stimulate the formation of clots for those who have developed antibodies against platelets. It is especially beneficial in situations where traditional transfusions of platelets are not working.

3. Hormonal Therapy

For women suffering from GT who experience heavy menstrual flow hormone therapy can help lessen bleeding during menstrual cycles.

4. Antifibrinolytic Agents

The drugs like the tranexamic acid aid in stabilizing clots and are frequently used in conjunction with other treatments to treat small bleeding, or for dental treatments.

5. Supportive Measures

• Nasal packing for nosebleeds

• Proper dental hygiene to reduce bleeding gums

• Elimination of NSAIDs along with other drugs which interfere with the function of platelets

6. Bone Marrow Transplantation

In select cases, hematopoietic stem cell transplantation (HSCT) has been curative, particularly in severe or transfusion-refractory patients. But, it is thought to be an advanced and high-risk alternative.

People who live with Glanzmann Trombasthenia

Patients with GT require specific treatment and a specialized treatment plan to control their illness. The prevention of bleeding through careful everyday activities, preparing for dental or medical procedures as well as having access to emergency medical attention are essential.

Genetic counseling is a must for families affected by the disease especially when planning for children as the possibility of recurrence could be assessed and discussed.

Conclusion

Glanzmann Thrombasthenia can be described as a rare, but treatable platelet disorder that is manageable. Thanks to advances in diagnostic tools, as well as the availability of targeted treatments, such as rFVIIa and gT, patients suffering from GT are able to lead life-long and enjoyable lives. Early diagnosis, individualized care, and awareness of genetics are essential to achieving better results.